ID
45300
Description
Principal Investigator: Martin Pollak, PhD, Beth Israel Deaconess Medical Center, Boston, MA, USA MeSH: Glomerulosclerosis, Focal Segmental,Nephrotic Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000484 Samples were chosen for sequencing from a set of probands from pedigrees with apparently inherited forms of focal segmental glomerulosclerosis (FSGS). Several genes have been identified which when mutated cause FSGS under both recessive and dominant inheritance patterns. These known genes are estimated to explain less than 50% of inherited FSGS. We chose samples from individuals in which previous analyses of known disease genes failed to identify likely disease-causing mutations.
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- 19/10/2022 19/10/2022 - Adrian Schulz
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Martin Pollak, PhD, Beth Israel Deaconess Medical Center, Boston, MA, USA
Téléchargé le
19 octobre 2022
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Creative Commons BY 4.0
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dbGaP phs000484 Molecular Genetic Analysis of Inherited Kidney Dysfunction
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